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Research

Expansion of the Human Phenotype Ontology (HPO) knowledge base and resources

The Human Phenotype Ontology is a standardized vocabulary of phenotypic abnormalities used by researchers, clinicians, informaticians and electronic health record systems

Research

“We are in this together”: Experiences of relationship satisfaction in couples raising a child with autism spectrum disorder

Couples can be supported in these key areas to strengthen their relationship to serve as a source of resilience for families with a child with ASD

Research

Psychometric properties of the Quality of Life Inventory-Disability (QI-Disability) measure

Initial evaluation suggests that QI-Disability is a reliable and valid measure of quality of life across the spectrum of intellectual disability

Research

Building the repertoire of measures of walking in Rett syndrome

This study aimed to determine measurement properties of a modified 2MWT and a modified Rett syndrome-specific FMS-RS in Rett syndrome.

Research

Maternal alcohol use disorder and subsequent child protection contact: A record-linkage population cohort study

We examined the relationship between a maternal alcohol-use diagnosis, and the timing of diagnosis, and child protection outcomes in a Western Australian population cohort.

Research

Potential impact of a maternal vaccine for RSV: A mathematical modelling study

Respiratory syncytial virus is a major cause of respiratory morbidity and one of the main causes of hospitalisation in young children.

Research

Orthopaedic issues in Rett Syndrome

This chapter reviews the prevalence, characteristics, and clinical management of orthopedic problems in RTT.

Research

Replication and Excretion of the Live Attenuated Tetravalent Dengue Vaccine CYD-TDV in a Flavivirus-Naive Adult Population: Assessment of Vaccine Viremia and Virus Shedding

We assessed replication and excretion of the live attenuated CYD-TDV into biological fluids following vaccination in dengue-naive adults in Australia.

Research

Infant nutrition and maternal obesity influence the risk of non-alcoholic fatty liver disease in adolescents

We examined the association of maternal factors and infant nutrition, with the subsequent diagnosis of NAFLD in adolescents

Research

An Evaluation of the National Empowerment Project Cultural, Social, and Emotional Wellbeing Program

Participant’s interviews describe how the Cultural, Social and Emotional Well Being(CSEWB) Program significantly changed their lives and their families’ lives in various constructive and affirming ways to bring about positive outcomes.